OBJECTIVE Peroxisomal blood tests are generally considered to be conclusive. We observed several patients with a clinical and MRI phenotype suggestive of an infantile onset peroxisomal defect, but no convincing abnormalities in initial peroxisomal blood tests. Brain MRI showed typical abnormalities as observed in the neonatal adrenoleukodystrophy variant of infantile peroxisomal disorders. Our ...

Background: Infantile haemangioma is the commonest childhood tumor. Several lines of treatment are available. Recent reports have focused on the value of propranolol in treating rapidly proliferating haemangioma. The aim of this study was to assess oral propranolol in treatment for facial haemangioma. Patients and Methods: Fifteen patients with rapidly proliferating infantile facial haemangioma...

OBJECTIVES Infantile hemangiomas often are inapparent at birth and have a period of rapid growth during early infancy followed by gradual involution. More precise information on growth could help predict short-term outcomes and make decisions about when referral or intervention, if needed, should be initiated. The objective of this study was to describe growth characteristics of infantile heman...

in the rare hereditary bone disorder of osteopetrosis, reduced bone resorption function leads to both the development of densely sclerotic fragile bones and progressive obliteration of the marrow spaces and cranial foramina. marrow obliteration, typically associated with extramedullary hemopoiesis and hepatosplenomegaly, results in anemia and thrombocytopenia and nerve entrapment accounts for p...

BACKGROUND Krabbe disease is a rare neurodegenerative genetic disorder caused by deficiency of galactocerebrosidase. Patients with the infantile form of Krabbe disease can be treated at a presymptomatic stage with human stem cell transplantation which improves survival and clinical outcomes. However, without a family history, most cases of infantile Krabbe disease present after onset of symptom...

AIM To study the difference between pyridoxine (PN) and its active form, pyridoxal phosphate, (PLP) in control of idiopathic intractable epilepsy in children. METHODS Among 574 children with active epilepsy, 94 (aged 8 months to 15 years) were diagnosed with idiopathic intractable epilepsy for more than six months. All received intravenous PLP 10 mg/kg, then 10 mg/kg/day in four divided doses...

Acute infantile spinal muscular atrophy (SMA type I, Werdnig-Hoffmann disease) has generally been accepted as an autosomal recessive disorder. However, several investigators have noted a slightly increased male to female ratio. We describe here a family with two affected male sibs who had a form of acute infantile SMA with congenital bone fractures, whose parents were first cousins. Pedigree an...

Of 42 patients with resolving infantile idiopathic scoliosis, 34 were followed up for more than 25 years. Twenty had been primarily treated in a plaster bed and 14 by physiotherapy. The mean angle of the curve at presentation was 17 degrees and at follow-up it was 5 degrees. No patient had significant progression of the scoliosis during the growth spurt. When adults few had back pain or an incr...

UNLABELLED INTRODUCTION AND CASE DESCRIPTION: Desmoplastic infantile astrocytomas (DIA) are rare intracranial tumors of infancy with distinctive clinical and radiological features. Despite their radiologically aggressive appearance they tend to follow a benign course with favorable prognosis even after subtotal resections. Non-infantile cases are rarely encountered with only four cases reported...